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Condition

Treacher Collins Syndrome

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Treacher Collins Syndrome?

Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.

What are the alternative names for Treacher Collins Syndrome?

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

What are the causes for Treacher Collins Syndrome?

Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.

This condition may vary in severity from generation to generation and from person to person.

What are the symptoms for Treacher Collins Syndrome?

Symptoms may include:

  • Outer part of the ears are abnormal or almost completely missing
  • Hearing loss
  • Very small jaw (micrognathia)
  • Very large mouth
  • Defect in the lower eyelid (coloboma)
  • Scalp hair that reaches to the cheeks
  • Cleft palate

What are the current treatments for Treacher Collins Syndrome?

Hearing loss is treated to ensure better performance in school.

Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.

What are the support groups for Treacher Collins Syndrome?

FACES: The National Craniofacial Association -- www.faces-cranio.org/

What is the outlook (prognosis) for Treacher Collins Syndrome?

Children with this syndrome typically grow to become functioning adults of normal intelligence.

What are the possible complications for Treacher Collins Syndrome?

Complications may include:

  • Feeding difficulty
  • Speaking difficulty
  • Communication problems
  • Vision problems

When should I contact a medical professional for Treacher Collins Syndrome?

This condition is most often seen at birth.

Genetic counseling can help families understand the condition and how to care for the person.

How do I prevent Treacher Collins Syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

REFERENCES

Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.

Katsanis SH, Jabs EW. Treacher Collins syndrome. GeneReviews. 2012:8. PMID: 20301704 www.ncbi.nlm.nih.gov/pubmed/20301704. Updated September 27, 2018. Accessed July 31, 2019.

Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.

Latest Research

Latest Advance
Study
  • Condition: Goldenhar Syndrome
  • Journal: International ophthalmology
  • Treatment Used: Tailored Ophthalmic Surgical Intervention
  • Number of Patients: 30
  • Published —
This study tested the safety and efficacy of using an ophthalmic surgical intervention that is tailored to each individual patient for treating Goldenhar syndrome.
Latest Advance
Study
  • Condition: Prevention of Surgical Wound Infection after Mandibular Distraction Using Internal Distractors in Hemifacial Microsomia (HFM)
  • Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
  • Treatment Used: Red-Blue Light Irradiation
  • Number of Patients: 118
  • Published —
This study evaluated the effectiveness of red-blue irradiation in the prevention of surgical wound infection after mandibular (jaw) distraction.
Latest Advance
Study
  • Condition: Lower Face Volumetric Asymmetry with Skeletal Immaturity
  • Journal: Annals of plastic surgery
  • Treatment Used: Isolated Fat Grafting
  • Number of Patients: 73
  • Published —
The study researched the effectiveness of isolated fat grafting in patients with lower face volumetric asymmetry with skeletal immaturity.
Latest Advance
Study
  • Condition: Patients With Craniofacial Microsomia (CFM)
  • Journal: The Journal of craniofacial surgery
  • Treatment Used: Dermal-Fat Graft for Facial Contouring
  • Number of Patients: 17
  • Published —
This study evaluated the facial contour and the percentage of symmetry after the use of dermal-fat graft in patients with craniofacial microsomia (CFM), a variable craniofacial malformation.

Clinical Trials

Clinical Trial
Procedure
  • Status: Active, not recruiting
  • Study Type: Procedure
  • Participants: 30
  • Start Date: January 10, 2019
Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia
Clinical Trial
Other
  • Status: Recruiting
  • Participants: 883
  • Start Date: February 23, 2018
Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology